| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CNGA3 | N182Y | Colour-blindness, total | Medium | 9 | 11536077 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.
| KCNH2 | APRIHRWTILHYSPFKA-VWDWLILLLVIY>T<AVFTPYSAAFLLKETEEGPPATECGYACQP | 451 |
| KCNH1 | APKTPPHIILHYCVFKT-TWDWIILILTFY>T<AILVPYNVSFKTRQN------------NVA | 249 |
| KCNH3 | AIRKSPFILLHCGALRA-TWDGFILLATLY>V<AVTVPYSVCVSTARE--------PSAARGP | 260 |
| KCNH4 | SVGGSRCLLLHYSVSKA-IWDGLILLATFY>V<AVTVPYNVCFSGDDD--------TPITSRH | 262 |
| KCNH5 | APKTPPHIILHYCAFKT-TWDWVILILTFY>T<AIMVPYNVSFKTKQN------------NIA | 246 |
| KCNH6 | APRIHRWTILHYSPFKA-VWDWLILLLVIY>T<AVFTPYSAAFLLSDQDE-SRRGACSYTCSP | 299 |
| KCNH7 | TPRINKFTILHYSPFKA-VWDWLILLLVIY>T<AIFTPYSAAFLLNDREE-QKRRECGYSCSP | 450 |
| KCNH8 | DAKKSKFILLHFSTFKA-GWDWLILLATFY>V<AVTVPYNVCFIGNDD--------LS-TTRS | 256 |
| CNGA1 | EEKKEVVVIDPSGNTYY-NWLFCITLPVMY>N<WTMVIARACFDELQS----------DYLEY | 199 |
| CNGA2 | KKKFELFVLDPAGDWYY-CWLFVIAMPVLY>N<WCLLVARACFSDLQK----------GYYLV | 174 |
| CNGA3 | TKKKDAIVVDPSSNLYY-RWLTAIALPVFY>N<WYLLICRACFDELQS----------EYLML | 202 |
| CNGA4 | KARKLLPVLDPSGDYYY-WWLNTMVFPVMY>N<LIILVCRACFPDLQH----------GYLVA | 68 |
| CNGB1 | KKYQFPQSIDPLTNLMYVLWLFFVVMAWNW>N<CWLIPVRWAFPYQTP----------DNIHH | 690 |
| CNGB3 | KRIKLPNSIDSYTDRLYLLWLLLVTLAYNW>N<CCFIPLRLVFPYQTA----------DNIHY | 252 |
| HCN1 | VKTAGFWIIHPYSDFRF-YWDLIMLIMMVG>N<LVIIPVGITFFTEQT------------TTP | 174 |
| HCN2 | VKSAGAWIIHPYSDFRF-YWDFTMLLFMVG>N<LIIIPVGITFFKDET------------TAP | 243 |
| HCN3 | VKSAGAWIIHPYSDFRF-YWDLIMLLLMVG>N<LIVLPVGITFFKEEN------------SPP | 125 |
| HCN4 | VKSAGFWIIHPYSDFRF-YWDLTMLLLMVG>N<LIIIPVGITFFKDEN------------TTP | 294 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T421M | c.1262C>T | Inherited Arrhythmia | LQTS | rs199472894 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Inherited Arrhythmia | LQTS | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Inherited Arrhythmia | LQTS | Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating. Circulation. 2012 126(24):2809-18. doi: 10.1161/CIRCULATIONAHA.112.1 23136156 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.Thr421Lys | c.1262C>A | Unknown | SIFT: Polyphen: | ||